ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4182G>A (p.Val1394=)

gnomAD frequency: 0.00024  dbSNP: rs371530941
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867560 SCV001008802 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501270 SCV002813061 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-03-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908233 SCV004720169 likely benign CEP290-related condition 2023-02-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001273071 SCV001455658 likely benign Leber congenital amaurosis 2020-01-08 no assertion criteria provided clinical testing

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